Showing 1 - 7 results of 7 for search 'Sandra E. Staffieri', query time: 0.03s Refine Results
  1. 1
    Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.

    Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. by Alpana Dave, Kate Laurie, Sandra E Staffieri, Deepa Taranath, David A Mackey, Paul Mitchell, Jie Jin Wang, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma

    Published 2013-01-01
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  2. 2
    Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

    Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma by Haojie Fu, Owen M. Siggs, Lachlan S.W. Knight, Sandra E. Staffieri, Jonathan B. Ruddle, Amy E. Birsner, Edward Ryan Collantes, Jamie E. Craig, Janey L. Wiggs, Robert J. D’Amato

    Published 2022-12-01
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  3. 3
    High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

    High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia by Shari Javadiyan, Jamie E. Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen M. Lower, David A. Mackey, Sandra E. Staffieri, James E. Elder, Deepa Taranath, Tania Straga, Joanna Black, John Pater, Theresa Casey, Alex W. Hewitt, Kathryn P. Burdon

    Published 2017-10-01
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  4. 4
    Pathogenic genetic variants identified in Australian families with paediatric cataract

    Pathogenic genetic variants identified in Australian families with paediatric cataract by David A Mackey, Emmanuelle Souzeau, Jamie E Craig, Jonathan B Ruddle, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Sandra E Staffieri, Johanna L Jones, Lisa S Kearns, James E Elder, Deepa Taranath, John Pater, Theresa Casey

    Published 2022-10-01
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  5. 5
    Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

    Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort by Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills

    Published 2022-10-01
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  6. 6
    Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

    Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases by Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study - GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, Wellcome Trust Case Control Consortium 2 (WTCCC2), NEIGHBORHOOD consortium, André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor

    Published 2019-01-01
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  7. 7
    Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

    Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases by Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor

    Published 2018-05-01
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    Article

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